[Alpha-thalassemia as a rare differential diagnosis of hydrops fetalis et placentae].
alpha-Thalassaemia is a disturbance of the alpha-chain synthesis of the haemoglobin, which occurs mostly in the Far East. On account of the total absence of alpha-chains, the homozygous form is considered to be fatal. However, beta and lambda chains exist abundantly. Abortion, intrauterine or perinatal death are the results of the extreme anaemia (Hb-Bart's syndrome), despite modern intensive medical care. The prenatal diagnosis is possible by: 1. DNA analysis of material obtained by chorion villi sampling or culture of fibroblasts, when a risk of re-occurrence is known to the physician. 2. Hb-electrophoresis from foetal blood in cases of hydrops of uncertain origin. When the diagnosis of this fatal disease is established, there is no foetal indication for delivery by Caesarian section.
Luttkus
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Universitätsfrauenklinik Charlottenburg, FU Berlin.
Kattner
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Griese
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EU
D000328:Adult; D002585:Cesarean Section; D003937:Diagnosis, Differential; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis*; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000175:diagnosis*; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics
Die alpha-Thalassämie als seltene Differentialdiagnose des Hydrops fetalis et placentae.